Results 151 to 160 of about 2,104,335 (295)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler   +5 more
wiley   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green   +2 more
wiley   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn   +11 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Home - About - Disclaimer - Privacy